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Signs and symptoms

 

There are a range of different signs and symptoms that your child or loved one might experience, beyond problems with their vision. These vary because of the number of diseases that are included in the term inherited retinal dystrophy.
Some of the ocular signs to look out for that can suggest your child or loved one might have a problem with their vision and that can prompt a doctor to arrange further tests are:

 Cartoon illustration of a woman and a young black girl high-fiving

In babies and young children

  • Nystagmus (uncontrolled eye movements)1
  • Photophobia (sensitivity to light)1,2
  • Poking or rubbing of the eyes1
  • Problems with hearing and balance (mostly associated with Usher syndrome)3
Cartoon illustration of a woman sat on an armchair, reading a book.

In older children and teenagers

  • Difficulty reading and seeing things  at a distance
  • Loss of visual acuity2
  • Night blindness (nyctalopia) or problems seeing in dim or low light1,2
  • Slow eye response when switching from bright to dim light

 

In children and adolescents, signs of a potential issue with vision can show up in other ways:

ADHD

Difficulty paying attention that may seem like ADHD (attention deficit hyperactivity disorder)4

 

book

Avoiding reading or losing place when reading4

 

chat

Complaints of eye discomfort or tiredness4

 

eye

Frequent eye rubbing or blinking4

 

This video gives an idea of what it can be like to live with an IRD, to care for someone who has it and also highlights some of the symptoms

How is IRD diagnosed?

Receiving a diagnosis for an IRD can be daunting for both you and your loved one, but knowing the process of a diagnosis is important in understanding your options.

There are two types of diagnosis for IRD: clinical diagnosis and genetic (or molecular) diagnosis.5

Clinical diagnosis

A clinical diagnosis is made based on the signs and symptoms on display as well as tests done in the doctor’s office. It is an assessment of whether a person has an IRD and, if so, what type. It might involve a number of different clinical tests carried out by a doctor or ophthalmologist. Some of these tests are outlined in more detail below.6

chart

Genetic diagnosis

A genetic diagnosis is where genetic testing is used to find out exactly what gene mutation is causing an IRD. It’s used to validate and confirm the clinical diagnosis and find out exactly what is wrong. Not all of the mutations that cause IRD have been identified yet, but a large proportion have, and a genetic test should be able to tell you more and help inform the management of your child or loved one’s IRD.7,8

dna

This video features a patient and her family discovering the symptoms and diagnosis of IRD. The family shares reasons for pursuing a genetic test and details their life after the diagnosis.

Clinical tests for IRD

Beyond normal sight tests, there are a number of different tests that a doctor or ophthalmologist might carry out to identify IRD and get more information.

  • Visual field testing: Uses a machine to check how much of the peripheral vision has been affected. This is non-invasive and involves the person indicating when they see a given stimulus, such as a flashing light.9
  • Retinal imaging: Uses a special camera to take images of the back of the eye including small structures and any abnormalities.10 This can be used to confirm a suspected clinical diagnosis and help guide further testing.
    • Fundus photography: A fundus photo is a picture of the retina that can be used to detect abnormalities. Fundus photography can be combined with autofluorescence imaging to give more information and makes it possible to diagnose IRDs such as Stargardt disease more easily.6
    • Optical coherence tomography (OCT): A scanning device that works by bouncing light waves off the retina to get a better picture of what is going on in the layers of the retina.6
  • Electroretinography (ERG): Measures the electrical response of rod and cone cells of the retina to light, using an electrode placed on the cornea. This helps see if the photoreceptor cells are functioning as they should be.6

Genetic testing

 

What is genetic testing?
A genetic test can be done after your child or loved one has been given an IRD diagnosis to provide more information about the mutation causing it and what their disease progression is likely to be. Genetic testing is usually done via a blood sample, and involves sequencing the genes in a laboratory and comparing them to mutations that are already known to relate to IRD.10 It’s done to give a more precise, genetic diagnosis of your condition and can help guide future management.

 

Why is genetic testing useful?
Genetic testing can help identify definitely if the patient has an IRD or not and, if so exactly what gene mutations are causing an IRD. This can help give a better idea of how the disease is likely to progress and can give the doctor more information to help guide disease management. A genetic diagnosis can also identify if your child or loved one might be a candidate for any ongoing or future clinical trials or approved treatments of IRD (see more here) and can help provide information that can guide further research into the treatment of different IRDs.11

As well as this, a genetic diagnosis helps to provide your child or loved one with reassurance about their condition, and give them important information about the likelihood of passing it on to any children they may have in the future.9

 

Getting referred for genetic testing
Your child or loved one’s ophthalmologist or doctor will usually want to make a full clinical diagnosis before proceeding to genetic testing. They may also want you to speak to a genetic counsellor before referring for genetic testing, as they can help you make sense of the results.9

 

If you think a genetic test could be the right option for your loved one, you should speak to their healthcare practitioner about the possibilities of moving forward.

References

1. Kumaran N, et al. Br J Ophthalmol 2017; 101: 1147–54.
2. Gill JS, et al. Br J Ophthalmol 2019; 103: 711–20.
3. Mathur P & Yang J. Biochim Biophys Acta 2015; 1852(3): 404–20.
4. American Optometric Association. School Age Vision. Available at https://www.aoa.org/patients-and-public/ good-vision-throughout-life/childrens-vision/school-aged-vision-6-to-18-years-of-age Accessed August 2020.
5. Menghini M, et al. Expert Opin Orphan Drugs 2020; 8(2–3): 67–78.
6. Henderson RH. Paediatrics and Child Health 2019; 30: 1.
7. Hafler BP. Retina 2017; 37(3): 417–423.
8. Duncan JL, et al. Trans Vis Sci Tech 2018; 7(4): 6.
9. RNIB and RCOphth. Understanding Retinitis pigmentosa and other inherited retinal dystrophies. 2017. Available at: https://www.rnib.org.uk/eye-health/eye-conditions/retinitis-pigmentosa Accessed August 2020.
10. RNIB Retinitis Pigmentosa. Available at: https://www.rnib.org.uk/eye-health/eye-conditions/retinitis-pigmentosa Accessed August 2020.
11. Retina international. 2020 http://retina-ird.org/ Accessed April 2020.

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